Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease

• Published in: Neuromolecular medicine 2006-03, Vol.8 (1-2), p.75-85
• Main Authors: Dubourg, O, Azzedine, H, Verny, C, Durosier, G, Birouk, N, Gouider, R, Salih, M, Bouhouche, A, Thiam, A, Grid, D, Mayer, M, Ruberg, M, Tazir, M, Brice, A, LeGuern, E
• Format: Article
• Language: English
• Subjects: Basins; Cataract - genetics; Cataract - physiopathology; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Disease - classification; Charcot-Marie-Tooth Disease - genetics; Charcot-Marie-Tooth Disease - physiopathology; chromosome 10; Chromosome Disorders - genetics; Chromosome Disorders - physiopathology; Congenital Abnormalities; Consanguinity; Demyelinating Diseases - genetics; Demyelinating Diseases - physiopathology; Demyelination; EGR-2 protein; Face - abnormalities; Genes, Recessive - genetics; Humans; Mutation; Syndrome
• ISSN: 1535-1084; 1559-1174
• DOI: 10.1385/nmm:8:1-2:75

Autosomal-recessive forms of Charcot-Marie-Tooth (ARCMT) account for less than 10% of the families in the European CMT population but are more frequent in the Mediterranean basin and the Middle East because of more widespread consanguinity. Until now, demyelinating ARCMT was more extensively studied at the genetic level than the axonal form. Since 1999, the number of localized or identified genes responsible for demyelinating ARCMT has greatly increased. Eight genes, EGR2, GDAP1, KIAA1985, MTMR2, MTMR13, NDRG1, PRX, and CTDP1, have been identified and two new loci mapped to chromosomes 10q23 and 12p11-q13. In this review, we will focus on the particular clinical and/or neuropathological features of the phenotype caused by mutations in each of these genes, which might guide molecular diagnosis.